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A young girl diagnosed with Ehlers-Danlos syndrome (EDS) exhibited a rare case of so-called odontogenic keratocysts — benign cystic lesions characterized by aggressive growth — in her jaw, according to a case report. The report highlights the importance of an interdisciplinary approach for diagnosis and treatment of such complex…

Genes involved in Ehlers-Danlos syndrome (EDS) appear to play a role in keratoconus (KC) — a thinning of the eye’s cornea. This finding, from a recent study, is the first to demonstrate shared genetic variations between the two disorders although their association has been suggested. The study, “…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

Note: This story was updated April 1, 2021, to note that the patient’s medical history included an inflammation of the peritoneum, not the perineum. Physicians should determine a patient’s specific type of Ehlers-Danlos syndrome (EDS) by identifying the underlying genetic mutations, as this is needed to best manage possible…

Joint hypermobility syndrome, including hypermobile Ehlers–Danlos syndrome (hEDS), is present in a large proportion of people with functional dyspepsia — a common gastrointestinal disorder also known as indigestion without an underlying cause, a study showed. The presence of joint hypermobility, however, does not significantly prevent the digestive system from working…

A new mutation causing classical Ehlers-Danlos syndrome (EDS) has been identified in a child whose parents did not carry the mutation. The mutation is of a type known to cause more severe symptoms. The case report, “Glycine substitution mutation of COL5A1 in classic Ehlers–Danlos syndrome: a case report…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

Note: This story was updated March 10, 2021, to provide an updated definition of autism spectrum disorder.  A higher frequency of attention-deficit/hyperactivity disorder and autism spectrum disorder was found in children with hypermobile EDS (hEDS) or hypermobility spectrum disorders (HSD), a Swedish study shows. These findings support the…

Hospitalized patients with Ehlers-Danlos syndrome (EDS) experience more gastrointestinal (GI), cardiovascular, nervous, and allergic conditions than those without EDS, a recent study has found. The findings suggest physicians should consider the possibility of EDS and exercise appropriate precautions when examining patients in whom these conditions have no other apparent…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…